Canonical Allele Identifier: CA409657481

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63659448C>T , CM000682.2:g.63659448C>T	GRCh38
NC_000020.10:g.62290801C>T , CM000682.1:g.62290801C>T	GRCh37
NC_000020.9:g.61761245C>T	NCBI36
NG_033901.1:g.6639C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.46C>T (RTEL1) MANE Select	NP_001269938.1:p.Gln16Ter
ENST00000360203.11:c.46C>T (RTEL1) MANE Select	ENSP00000353332.5:p.Gln16Ter
NM_001283009.1:c.46C>T (RTEL1)	NP_001269938.1:p.Gln16Ter
NM_001283010.1:c.-568+989C>T (RTEL1)	NP_001269939.1:n.-568+989C>T
NM_016434.3:c.46C>T (RTEL1)	NP_057518.1:p.Gln16Ter
NM_016434.4:c.46C>T (RTEL1)	NP_057518.1:p.Gln16Ter
NM_032957.4:c.46C>T (RTEL1)	NP_116575.3:p.Gln16Ter
NM_032957.5:c.46C>T (RTEL1)	NP_116575.3:p.Gln16Ter
NR_037882.1:n.873C>T (RTEL1-TNFRSF6B)
ENST00000318100.8:c.-568+989C>T (RTEL1)	ENSP00000322287.5:n.-568+989C>T
ENST00000318100.9:c.-568+989C>T (RTEL1)	ENSP00000322287.5:n.-568+989C>T
ENST00000356810.5:c.46C>T (RTEL1)	ENSP00000349265.4:p.Gln16Ter
ENST00000360203.9:c.46C>T (RTEL1)	ENSP00000353332.5:p.Gln16Ter
ENST00000370018.7:c.46C>T (RTEL1)	ENSP00000359035.3:p.Gln16Ter
ENST00000469728.5:n.389C>T (RTEL1)
ENST00000482936.5:c.46C>T (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Gln16Ter
ENST00000482936.6:c.46C>T (RTEL1)	ENSP00000457868.2:p.Gln16Ter
ENST00000488316.1:n.300C>T (RTEL1)
ENST00000488316.2:n.316C>T (RTEL1)
ENST00000492259.6:c.46C>T (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Gln16Ter
ENST00000508582.6:c.46C>T (RTEL1)	ENSP00000424307.2:p.Gln16Ter
ENST00000508582.7:c.46C>T (RTEL1)	ENSP00000424307.2:p.Gln16Ter
ENST00000646389.1:c.46C>T (RTEL1)	ENSP00000494280.1:p.Gln16Ter
ENST00000684971.1:n.371C>T (RTEL1)
ENST00000686756.1:n.364C>T (RTEL1)
ENST00000692658.1:n.378C>T (RTEL1)
ENST00000692911.1:n.773C>T (RTEL1)